UNC80 (unc-80 subunit of NALCN channel complex)

Gene

• Entrez ID: 285175
• Gene name: Unc-80 subunit of NALCN channel complex
• Gene symbol: UNC80
• Synonyms (NCBI Gene): C2orf21, UNC-80
• Chromosome: 2
• Chromosome location: 2q34
• Summary: The protein encoded by this gene is a component of a voltage-independent `leak` ion-channel complex, in which it performs essential functions, such as serving as a bridge between two other components (sodium leak channel non-selective and UNC79) and as a

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74517001	C>T	Not-provided, pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, non coding transcript variant
rs145935313	T>C	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant, non coding transcript variant
rs192242889	C>A,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs199561408	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, missense variant
rs200473652	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs200659479	C>T	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs751913925	C>G,T	Pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant, genic upstream transcript variant
rs761062440	T>C	Likely-pathogenic, not-provided	Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs767633598	C>A,T	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, non coding transcript variant, synonymous variant
rs864321622	C>A,T	Likely-pathogenic, pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, non coding transcript variant, upstream transcript variant, synonymous variant
rs864321623	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs869025316	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs869025317	G>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs869025318	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs869025319	T>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs869025320	C>T	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs886041094	G>A	Likely-pathogenic	Downstream transcript variant, coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs886043644	T>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs940057866	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant, missense variant
rs981874506	G>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs1064796916	G>A	Pathogenic	Non coding transcript variant, downstream transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs1135401813	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant, upstream transcript variant
rs1186997983	G>C,T	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1262654975	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, intron variant
rs1266989763	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1271766753	C>A,T	Likely-pathogenic	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs1553523425	T>-	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553527439	->GG	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1553619640	G>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1553621490	AG>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, genic downstream transcript variant
rs1553621496	T>G	Likely-pathogenic	Splice donor variant, intron variant, genic downstream transcript variant
rs1574434743	G>A	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1574574226	C>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, non coding transcript variant
rs1574579609	AC>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, non coding transcript variant
rs1574855486	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1575147319	CT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1575179679	T>G	Likely-pathogenic	Downstream transcript variant, splice donor variant, genic downstream transcript variant, intron variant
rs1575183610	C>T	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT721106	hsa-miR-888-5p	HITS-CLIP	19536157
MIRT721105	hsa-miR-889-5p	HITS-CLIP	19536157
MIRT721104	hsa-miR-1323	HITS-CLIP	19536157
MIRT721103	hsa-miR-548o-3p	HITS-CLIP	19536157
MIRT721102	hsa-miR-371b-5p	HITS-CLIP	19536157
MIRT721101	hsa-miR-373-5p	HITS-CLIP	19536157
MIRT721100	hsa-miR-616-5p	HITS-CLIP	19536157
MIRT721099	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT721098	hsa-miR-4999-5p	HITS-CLIP	19536157
MIRT721097	hsa-miR-7974	HITS-CLIP	19536157
MIRT721096	hsa-miR-4687-3p	HITS-CLIP	19536157
MIRT721106	hsa-miR-888-5p	HITS-CLIP	19536157
MIRT721105	hsa-miR-889-5p	HITS-CLIP	19536157
MIRT721104	hsa-miR-1323	HITS-CLIP	19536157
MIRT721103	hsa-miR-548o-3p	HITS-CLIP	19536157
MIRT721102	hsa-miR-371b-5p	HITS-CLIP	19536157
MIRT721101	hsa-miR-373-5p	HITS-CLIP	19536157
MIRT721100	hsa-miR-616-5p	HITS-CLIP	19536157
MIRT721099	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT721098	hsa-miR-4999-5p	HITS-CLIP	19536157
MIRT721097	hsa-miR-7974	HITS-CLIP	19536157
MIRT721096	hsa-miR-4687-3p	HITS-CLIP	19536157
MIRT1475631	hsa-miR-103a	CLIP-seq
MIRT1475632	hsa-miR-107	CLIP-seq
MIRT1475633	hsa-miR-1183	CLIP-seq
MIRT1475634	hsa-miR-1294	CLIP-seq
MIRT1475635	hsa-miR-129-5p	CLIP-seq
MIRT1475636	hsa-miR-148a	CLIP-seq
MIRT1475637	hsa-miR-148b	CLIP-seq
MIRT1475638	hsa-miR-152	CLIP-seq
MIRT1475639	hsa-miR-15a	CLIP-seq
MIRT1475640	hsa-miR-15b	CLIP-seq
MIRT1475641	hsa-miR-16	CLIP-seq
MIRT1475642	hsa-miR-195	CLIP-seq
MIRT1475643	hsa-miR-3163	CLIP-seq
MIRT1475644	hsa-miR-3168	CLIP-seq
MIRT1475645	hsa-miR-3545-3p	CLIP-seq
MIRT1475646	hsa-miR-3616-5p	CLIP-seq
MIRT1475647	hsa-miR-3647-5p	CLIP-seq
MIRT1475648	hsa-miR-3653	CLIP-seq
MIRT1475649	hsa-miR-3658	CLIP-seq
MIRT1475650	hsa-miR-424	CLIP-seq
MIRT1475651	hsa-miR-4264	CLIP-seq
MIRT1475652	hsa-miR-4312	CLIP-seq
MIRT1475653	hsa-miR-4316	CLIP-seq
MIRT1475654	hsa-miR-4328	CLIP-seq
MIRT1475655	hsa-miR-4524	CLIP-seq
MIRT1475656	hsa-miR-4635	CLIP-seq
MIRT1475657	hsa-miR-4645-3p	CLIP-seq
MIRT1475658	hsa-miR-4703-3p	CLIP-seq
MIRT1475659	hsa-miR-4735-5p	CLIP-seq
MIRT1475660	hsa-miR-4747-5p	CLIP-seq
MIRT1475661	hsa-miR-4775	CLIP-seq
MIRT1475662	hsa-miR-4797-3p	CLIP-seq
MIRT1475663	hsa-miR-491-3p	CLIP-seq
MIRT1475664	hsa-miR-497	CLIP-seq
MIRT1475665	hsa-miR-501-3p	CLIP-seq
MIRT1475666	hsa-miR-502-3p	CLIP-seq
MIRT1475667	hsa-miR-503	CLIP-seq
MIRT1475668	hsa-miR-511	CLIP-seq
MIRT1475669	hsa-miR-513a-5p	CLIP-seq
MIRT1475670	hsa-miR-515-3p	CLIP-seq
MIRT1475671	hsa-miR-519e	CLIP-seq
MIRT1475672	hsa-miR-526b	CLIP-seq
MIRT1475673	hsa-miR-556-3p	CLIP-seq
MIRT1475674	hsa-miR-573	CLIP-seq
MIRT1475675	hsa-miR-578	CLIP-seq
MIRT1475676	hsa-miR-590-3p	CLIP-seq
MIRT1475677	hsa-miR-595	CLIP-seq
MIRT1475678	hsa-miR-646	CLIP-seq
MIRT1475679	hsa-miR-1305	CLIP-seq
MIRT1475680	hsa-miR-329	CLIP-seq
MIRT1475681	hsa-miR-3613-3p	CLIP-seq
MIRT1475682	hsa-miR-362-3p	CLIP-seq
MIRT1475683	hsa-miR-3689d	CLIP-seq
MIRT1475684	hsa-miR-3941	CLIP-seq
MIRT1475685	hsa-miR-410	CLIP-seq
MIRT1475686	hsa-miR-4659a-3p	CLIP-seq
MIRT1475687	hsa-miR-4659b-3p	CLIP-seq
MIRT1475688	hsa-miR-4694-3p	CLIP-seq
MIRT1475689	hsa-miR-4778-3p	CLIP-seq
MIRT1475690	hsa-miR-4789-3p	CLIP-seq
MIRT1475691	hsa-miR-4796-5p	CLIP-seq
MIRT1475692	hsa-miR-4799-5p	CLIP-seq
MIRT1475663	hsa-miR-491-3p	CLIP-seq
MIRT1475693	hsa-miR-495	CLIP-seq
MIRT1475694	hsa-miR-498	CLIP-seq
MIRT1475665	hsa-miR-501-3p	CLIP-seq
MIRT1475666	hsa-miR-502-3p	CLIP-seq
MIRT1475695	hsa-miR-522	CLIP-seq
MIRT1475696	hsa-miR-548g	CLIP-seq
MIRT1475697	hsa-miR-548l	CLIP-seq
MIRT1475698	hsa-miR-548n	CLIP-seq
MIRT1475699	hsa-miR-548p	CLIP-seq
MIRT1475700	hsa-miR-603	CLIP-seq
MIRT2143354	hsa-miR-421	CLIP-seq
MIRT1475680	hsa-miR-329	CLIP-seq
MIRT2363607	hsa-miR-330-3p	CLIP-seq
MIRT2363608	hsa-miR-3607-3p	CLIP-seq
MIRT1475682	hsa-miR-362-3p	CLIP-seq
MIRT2363609	hsa-miR-3924	CLIP-seq
MIRT1475684	hsa-miR-3941	CLIP-seq
MIRT2363610	hsa-miR-4291	CLIP-seq
MIRT2363611	hsa-miR-4310	CLIP-seq
MIRT1475654	hsa-miR-4328	CLIP-seq
MIRT2363612	hsa-miR-4738-3p	CLIP-seq
MIRT1475690	hsa-miR-4789-3p	CLIP-seq
MIRT1475700	hsa-miR-603	CLIP-seq
MIRT2363613	hsa-miR-944	CLIP-seq
MIRT2396699	hsa-miR-1224-5p	CLIP-seq
MIRT1475680	hsa-miR-329	CLIP-seq
MIRT1475682	hsa-miR-362-3p	CLIP-seq
MIRT2396700	hsa-miR-3915	CLIP-seq
MIRT1475684	hsa-miR-3941	CLIP-seq
MIRT2396701	hsa-miR-4689	CLIP-seq
MIRT2396702	hsa-miR-4751	CLIP-seq
MIRT2396703	hsa-miR-4759	CLIP-seq
MIRT1475690	hsa-miR-4789-3p	CLIP-seq
MIRT1475672	hsa-miR-526b	CLIP-seq
MIRT1475700	hsa-miR-603	CLIP-seq
MIRT2462936	hsa-miR-1205	CLIP-seq
MIRT2462937	hsa-miR-3127-5p	CLIP-seq
MIRT2462938	hsa-miR-3171	CLIP-seq
MIRT2462939	hsa-miR-3200-5p	CLIP-seq
MIRT2462940	hsa-miR-376a	CLIP-seq
MIRT2462941	hsa-miR-376b	CLIP-seq
MIRT2462942	hsa-miR-3918	CLIP-seq
MIRT2462943	hsa-miR-4649-3p	CLIP-seq
MIRT2462944	hsa-miR-548o	CLIP-seq
MIRT2462945	hsa-miR-604	CLIP-seq
MIRT2462946	hsa-miR-647	CLIP-seq
MIRT2462947	hsa-miR-888	CLIP-seq
MIRT2694765	hsa-miR-28-5p	CLIP-seq
MIRT2694766	hsa-miR-3139	CLIP-seq
MIRT2694767	hsa-miR-3606	CLIP-seq
MIRT2694768	hsa-miR-3619-3p	CLIP-seq
MIRT2694769	hsa-miR-4633-3p	CLIP-seq
MIRT2694770	hsa-miR-708	CLIP-seq
MIRT2694771	hsa-miR-921	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005261	Function	Cation channel activity	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0030424	Component	Axon	IBA	21873635
GO:0034220	Process	Ion transmembrane transport	TAS
GO:0034703	Component	Cation channel complex	IBA	21873635
GO:0055080	Process	Cation homeostasis	IBA	21873635
GO:0098655	Process	Cation transmembrane transport	IEA

Other IDs

• MIM: 612636
• HGNC: 26582
• e!Ensembl: ENSG00000144406

Protein

• UniProt ID: Q8N2C7
• Protein name: Protein unc-80 homolog
• Protein function: Auxiliary subunit of the NALCN sodium channel complex, a voltage-gated ion channel responsible for the resting Na(+) permeability that controls neuronal excitability (By similarity). Activated by neuropeptides substance P, neurotensin, and extra
• PDB: 7SX3, 7SX4, 7WJI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15778	UNC80	16 → 236	Cation channel complex component UNC80	Family

• Tissue specificity: TISSUE SPECIFICITY: Moderately expressed in fetal brain, spinal cord, skeletal muscle, thymus, spleen, fetal liver, small intestine, colon, kidney and uterus. Highly expressed in adrenal gland, prostate and testis, as well as in brain and cerebellum. {ECO
• Sequence:

  MVKRKSSEGQEQDGGRGIPLPIQTFLWRQTSAFLRPKLGKQYEASCVSFERVLVENKLHG
  LSPALSEAIQSISRWELVQAALPHVLHCTATLLSNRNKLGHQDKLGVAETKLLHTLHWML
  LEAPQDCNNERFGGTDRGSSWGGSSSAFIHQVENQGSPGQPCQSSSNDEEENNRRKIFQN
  SMATVELFVFLFAPLVHRIKESDLTFRLASGLVIWQPMWEHRQPGVSGFTALVKPIRNII
  TAKRSSPINSQSRTCESPNQDARHLEGLQVVCETFQSDSISPKATISGCHRGNSFDGSLS
  SQTSQERGPSHSRASLVIPPCQRSRYATYFDVAVLRCLLQPHWSEEGTQWSLMYYLQRLR
  HMLEEKPEKPPEPDIPLLPRPRSSSMVAAAPSLVNTHKTQDLTMKCNEEEKSLSSEAFSK
  VSLTNLRRSAVPDLSSDLGMNIFKKFKSRKEDRERKGSIPFHHTGKRRPRRMGVPFLLHE
  DHLDVSPTRSTFSFGSFSGLGEDRRGIEKGGWQTTILGKLTRRGSSDAATEMESLSARHS
  HSHHTLVSDLPDPSNSHGENTVKEVRSQISTITVATFNTTLASFNVGYADFFNEHMRKLC
  NQVPIPEMPHEPLACANLPRSLTDSCINYSYLEDTEHIDGTNNFVHKNGMLDLSVVLKAV
  YLVLNHDISSRICDVALNIVECLLQLGVVPCVEKNRKKSENKENETLEKRPSEGAFQFKG
  VSGSSTCGFGGPAVSGAGDGGGEEGGGGDGGGGGGDGGGGGGGGGGPYEKNDKNQEKDES
  TPVSNHRLALTMLIKIVKSLGCAYGCGEGHRGLSGDRLRHQVFRENAQNCLTKLYKLDKM
  QFRQTMRDYVNKDSLNNVVDFLHALLGFCMEPVTDNKAGFGNNFTTVDNKSTAQNVEGII
  VSAMFKSLITRCASTTHELHSPENLGLYCDIRQLVQFIKEAHGNVFRRVALSALLDSAEK
  LAPGKKVEENEQESKPAGSKRSEAGSIVDKGQVSSAPEECRSFMSGRPSQTPEHDEQMQG
  ANLGRKDFWRKMFKSQSAASDTSSQSEQDTSECTTAHSGTTSDRRARSRSRRISLRKKLK
  LPIGKRNWLKRSSLSGLADGVEDLLDISSVDRLSFIRQSSKVKFTSAVKLSEGGPGSGME
  NGRDEEENFFKRLGCHSFDDHLSPNQDGGKSKNVVNLGAIRQGMKRFQFLLNCCEPGTIP
  DASILAAALDLEAPVVARAALFLECARFVHRCNRGNWPEWMKGHHVNITKKGLSRGRSPI
  VGNKRNQKLQWNAAKLFYQWGDAIGVRLNELCHGESESPANLLGLIYDEETKRRLRKEDE
  EEDFLDDSTVNPSKCGCPFALKMAACQLLLEITTFLRETFSCLPRPRTEPLVDLESCRLR
  LDPELDRHRYERKISFAGVLDENEDSKDSLHSSSHTLKSDAGVEEKKEGSPWSASEPSIE
  PEGMSNAGAEENYHRNMSWLHVMILLCNQQSFICTHVDYCHPHCYLHHSRSCARLVRAIK
  LLYGDSVDSLRESSNISSVALRGKKQKECSDKSCLRTPSLKKRVSDANLEGKKDSGMLKY
  IRLQVMSLSPAPLSLLIKAAPILTEEMYGDIQPAAWELLLSMDEHMAGAAAAMFLLCAVK
  VPEAVSDMLMSEFHHPETVQRLNAVLKFHTLWRFRYQVWPRMEEGAQQIFKIPPPSINFT
  LPSPVLGMPSVPMFDPPWVPQCSGSVQDPINEDQSKSFSARAVSRSHQRAEHILKNLQQE
  EEKKRLGREASLITAIPITQEACYEPTCTPNSEPEEEVEEVTNLASRRLSVSPSCTSSTS
  HRNYSFRRGSVWSVRSAVSAEDEEHTTEHTPNHHVPQPPQAVFPACICAAVLPIVHLMED
  GEVREDGVAVSAVAQQVLWNCLIEDPSTVLRHFLEKLTISNRQDELMYMLRKLLLNIGDF
  PAQTSHILFNYLVGLIMYFVRTPCEWGMDAISATLTFLWEVVGYVEGLFFKDLKQTMKKE
  QCEVKLLVTASMPGTKTLVVHGQNECDIPTQLPVHEDTQFEALLKECLEFFNIPESQSTH
  YFLMDKRWNLIHYNKTYVRDIYPFRRSVSPQLNLVHMHPEKGQELIQKQVFTRKLEEVGR
  VLFLISLTQKIPTAHKQSHVSMLQEDLLRLPSFPRSAIDAEFSLFSDPQAGKELFGLDTL
  QKSLWIQLLEEMFLGMPSEFPWGDEIMLFLNVFNGALILHPEDSALLRQYAATVINTAVH
  FNHLFSLSGYQWILPTMLQVYSDYESNPQLRQAIEFACHQFYILHRKPFVLQLFASVAPL
  LEFPDAANNGPSKGVSAQCLFDLLQSLEGETTDILDILELVKAEKPLKSLDFCYGNEDLT
  FSISEAIKLCVTVVAYAPESFRSLQMLMVLEALVPCYLQKLKRQTSQVETVPAAREEIAA
  TAALATSLQALLYSVEVLTRPMTAPQMSRCDQGHKGTTTANHTMSSGVNTRYQEQGAKLH
  FIRENLHLLEEGQGIPREELDERIAREEFRRPRESLLNICTEFYKHCGPRLKILQNLAGE
  PRVIALELLDVKSHMRLAEIAHSLLKLAPYDTQTMESRGLRRYIMEMLPITDWTAEAVRP
  ALILILKRLDRMFNKIHKMPTLRRQVEWEPASNLIEGVCLTLQRQPIISFLPHLRSLINV
  CVNLVMGVVGPSSVADGLPLLHLSPYLSPPLPFSTAVVRLVALQIQALKEDFPLSHVISP
  FTNQERREGMLLNLLIPFVLTVGSGSKDSPWLEQPEVQLLLQTVINVLLPPRIISTSRSK
  NFMLESSPAHCSTPGDAGKDLRREGLAESTSQAAYLALKVILVCFERQLGSQWYWLSLQV
  KEMALRKVGGLALWDFLDFIVRTRIPIFVLLRPFIQCKLLAQPAENHEELSARQHIADQL
  ERRFIPRPLCKSSLIAEFNSELKILKEAVHSGSAYQGKTSISTVGTSTSAYRLSLATMSR
  SNTGTGTVWEQDSEPSQQASQDTLSRTDEEDEENDSISMPSVVSEQEAYLLSAIGRRRFS
  SHVSSMSVPQAEVGMLPSQSEPNVLDDSQGLAAEGSLSRVASIQSEPGQQNLLVQQPLGR
  KRGLRQLRRPLLSRQKTQTEPRNRQGARLSTTRRSIQPKTKPSADQKRSVTFIEAQPEPA
  AAPTDALPATGQLQGCSPAPSRKPEAMDEPVLTSSPAIVVADLHSVSPKQSENFPTEEGE
  KEEDTEAQGATAHSPLSAQLSDPDDFTGLETSSLLQHGDTVLHISEENGMENPLLSSQFT
  FTPTELGKTDAVLDESHV

• Sequence length: 3258

Pathways

Reactome:

Stimuli-sensing channels

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Autism spectrum disorder	Autism Spectrum Disorders	rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813	28191889
Developmental delay	Global developmental delay, Profound global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Encephalopathy	Profound static encephalopathy	rs118204095, rs118204096, rs118204101, rs118204109, rs118204119, rs28939378, rs121908531, rs28936674, rs80359829, rs80359828, rs80359816, rs80359814, rs2124448824, rs121909739, rs121909740, rs267607061, rs80359818, rs387906935, rs1563989427, rs387907312, rs387907313, rs397514615, rs587784391, rs587784397, rs587784396, rs587784390, rs587784393, rs75485205, rs794729221, rs368311455, rs796053264, rs796053263, rs796053254, rs796053253, rs80359823, rs794727642, rs796053272, rs80359841, rs375169579, rs747753388, rs863224237, rs863223953, rs864309522, rs864321623, rs200659479, rs864321622, rs369160589, rs878853161, rs879253874, rs879255685, rs886037861, rs879255686, rs886037862, rs753829320, rs879255690, rs886039517, rs769525399, rs776095655, rs886041590, rs1057517515, rs1057517477, rs1057517729, rs1057517822, rs1057518953, rs1057518694, rs1057521967, rs1057520545, rs1057521066, rs80359832, rs368458768, rs1131691330, rs539962457, rs1190703859, rs776874412, rs1417315589, rs1553155986, rs1553156053, rs1553156051, rs1553156069, rs1554523224, rs1553157935, rs1553155973, rs1259158687, rs1413339367, rs753161833, rs143595616, rs1285225437, rs1553169629, rs1553169787, rs762366252, rs1553170029, rs1187631754, rs1553169720, rs1479104927, rs1345986424, rs1557646673, rs1565548029, rs80359819, rs1210153519, rs1557646075, rs1570590834, rs1570592933, rs80359812, rs1570593665, rs760398697, rs1570601007, rs1387203768, rs1570592844, rs1570593820, rs1570601060, rs1592661973, rs1570590859, rs1570590905, rs1341055534, rs1570592604, rs201966320, rs1645359135, rs751557097, rs752468216, rs80359824, rs1159593580, rs1677398842
Hypotonia, with psychomotor retardation and characteristic facies	HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2	rs587777038, rs869025188, rs587777068, rs374319146, rs864321623, rs200659479, rs864321622, rs869025317, rs869025318, rs869025319, rs869025320, rs575822089, rs376699648, rs869320769, rs62321379, rs771481304, rs746860249, rs1057518332, rs762552974, rs1131691329, rs1135401813, rs981874506, rs1553523425, rs1553621496, rs1553621490, rs376152742, rs767633598, rs1158771233, rs1555379886, rs1333710212, rs1560755661, rs1560929669, rs1579395680, rs1303851095, rs1579391376, rs751913925, rs1574579609, rs1262654975, rs1575183610, rs1459166839, rs1594134160, rs1031314447, rs1594168638, rs772394714, rs766421214, rs1594211334, rs1594212468, rs1594218864, rs1594759803, rs1594761911, rs1574434743, rs1575179679, rs1594146891, rs1594211051, rs1594168705, rs1594211244, rs1186997983, rs1574855486, rs1579257340, rs1594211911, rs1574574226, rs1575147319	26708751, 26545877, 30167850, 26708753, 25529582
Mental retardation	Severe intellectual disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis, Ptosis			ClinVar
Hypotonia, With Psychomotor Retardation	hypotonia, infantile, with psychomotor retardation and characteristic facies			GenCC
Anxiety Disorder	Anxiety Disorder			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Brain Diseases	Associate	26708751
Carcinogenesis	Associate	29049217
Channelopathies	Associate	30092901, 30167850
Developmental Disabilities	Associate	27513830
Distal myopathy Nonaka type	Associate	27513830
Epilepsy	Associate	30092901
Failure to Thrive	Associate	27513830
Growth Disorders	Associate	26708751
Infantile Epileptic Dyskinetic Encephalopathy	Associate	26708753
Intellectual Disability	Associate	26708751, 30092901
Muscle Hypotonia	Associate	26708751, 30092901, 30167850
Pancreatic Neoplasms	Associate	29049217
Paraplegia	Associate	27513830
Psychomotor Disorders	Associate	30167850
Renal Insufficiency	Associate	26708751
Respiratory System Abnormalities	Associate	30092901
Sleep Apnea Syndromes	Associate	30092901